Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

ABSTRACT:

Background

Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies.

Aim

To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort.

Methods

Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity

SUBMITTER: Korner M 

PROVIDER: S-EPMC6390315 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature